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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
P S V E L P F H T F N V K A R E Q L K I D V P F K G R P Q A T V N W R K D G Q T L K E T T R V N V S S S K T V T S L S I K E A S K E D V G T Y E L C V S N S A G S I T V P I T I I V L D R P G P P G P I R I D E V S C D S I T I S W N P P E Y D G G C Q I S N Y I V E K K E T T S T T W H I V S Q A V A R T S I K I V R L T T G S E Y Q F R V C A E N R Y G K S S Y S E S S A V V A E Y P
P S V E L P F H T F N V K A R E Q L K I D V P F K G R P Q A T V N W R K D G Q T L K E T T R V N V S S S K T V T S L S I K E A S K E D V G T Y E L C V S N S A G S I T V P I T I I V - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
27963 1 P/A 1 None 0.2089 None gnomAD-4.0.0 1.59311E-06
27965 3 V/A 3 rs1284864788 0.2412 None gnomAD-2.1.1 4.04E-06
27965 3 V/A 3 rs1284864788 0.2412 None gnomAD-3.1.2 6.57E-06
27965 3 V/A 3 rs1284864788 0.2412 None gnomAD-4.0.0 2.56472E-06
27965 3 V/I 3 rs1321140287 0.2412 None gnomAD-2.1.1 4.04E-06
27965 3 V/I 3 rs1321140287 0.2412 None gnomAD-3.1.2 6.57E-06
27965 3 V/I 3 rs1321140287 0.2412 None gnomAD-4.0.0 3.10005E-06
27968 6 P/S 7 rs541254027 0.4481 None gnomAD-2.1.1 1.44E-05
27968 6 P/S 7 rs541254027 0.4481 None gnomAD-3.1.2 5.26E-05
27968 6 P/S 7 rs541254027 0.4481 None 1000 genomes 1.99681E-04
27968 6 P/S 7 rs541254027 0.4481 None gnomAD-4.0.0 9.30168E-06
27969 7 F/C 8 None 0.6373 None gnomAD-4.0.0 1.36945E-06
27969 7 F/L 8 rs1326312307 0.6373 None gnomAD-2.1.1 4.05E-06
27969 7 F/L 8 rs1326312307 0.6373 None gnomAD-4.0.0 2.05427E-06
27969 7 F/S 8 None 0.6373 None gnomAD-4.0.0 6.84724E-07
27970 8 H/R 9 None 0.5210 None gnomAD-4.0.0 1.59421E-06
27970 8 H/Y 9 None 0.5210 None gnomAD-4.0.0 1.59439E-06
27971 9 T/I 11 rs749273430 0.3555 None gnomAD-2.1.1 4.05E-06
27971 9 T/I 11 rs749273430 0.3555 None gnomAD-3.1.2 6.57E-06
27971 9 T/I 11 rs749273430 0.3555 None gnomAD-4.0.0 5.58137E-06
27971 9 T/S 11 rs956060755 0.3555 None gnomAD-2.1.1 4.05E-06
27971 9 T/S 11 rs956060755 0.3555 None gnomAD-4.0.0 6.8476E-07
27972 10 F/S 13 rs1703936527 0.2309 None gnomAD-4.0.0 1.20032E-06
27973 11 N/K 14 None 0.5481 None gnomAD-4.0.0 6.8475E-07
27973 11 N/S 14 None 0.5481 None gnomAD-4.0.0 1.20032E-06
27975 13 K/N 18 None 0.4688 None gnomAD-4.0.0 6.8473E-07
27975 13 K/R 18 None 0.4688 None gnomAD-4.0.0 1.5944E-06
27976 14 A/G 23 None 0.2070 None gnomAD-4.0.0 4.8013E-06
27976 14 A/T 23 rs879219359 0.2070 None gnomAD-2.1.1 3.19E-05
27976 14 A/T 23 rs879219359 0.2070 None gnomAD-3.1.2 1.31E-05
27976 14 A/T 23 rs879219359 0.2070 None gnomAD-4.0.0 1.11628E-05
27977 15 R/G 24 rs1408743054 0.8302 None gnomAD-2.1.1 4.05E-06
27977 15 R/G 24 rs1408743054 0.8302 None gnomAD-4.0.0 1.59389E-06
27977 15 R/T 24 rs1703931873 0.8302 None gnomAD-3.1.2 6.57E-06
27977 15 R/T 24 rs1703931873 0.8302 None gnomAD-4.0.0 6.57341E-06
27979 17 Q/R 26 rs755935124 0.4434 None gnomAD-2.1.1 8.09E-06
27979 17 Q/R 26 rs755935124 0.4434 None gnomAD-3.1.2 1.31E-05
27979 17 Q/R 26 rs755935124 0.4434 None gnomAD-4.0.0 9.92063E-06
27980 18 L/P 28 rs1060500536 0.1617 None gnomAD-4.0.0 4.10741E-06
27981 19 K/Q 29 rs1472389863 0.4488 None gnomAD-2.1.1 4.05E-06
27981 19 K/Q 29 rs1472389863 0.4488 None gnomAD-4.0.0 1.59331E-06
27982 20 I/T 30 rs773976497 0.1035 None gnomAD-4.0.0 2.73825E-06
27985 23 P/L 34 rs978568900 0.3618 None gnomAD-3.1.2 1.31E-05
27985 23 P/L 34 rs978568900 0.3618 None gnomAD-4.0.0 3.1001E-06
27985 23 P/Q 34 None 0.3618 None gnomAD-4.0.0 6.84578E-07
27985 23 P/S 34 rs1362226750 0.3618 None gnomAD-2.1.1 4.05E-06
27985 23 P/S 34 rs1362226750 0.3618 None gnomAD-3.1.2 6.58E-06
27985 23 P/S 34 rs1362226750 0.3618 None gnomAD-4.0.0 1.86011E-06
27986 24 F/L 35 rs1184136352 0.1177 None gnomAD-2.1.1 4.05E-06
27987 25 K/R 38 None 0.5848 None gnomAD-4.0.0 1.5929E-06
27988 26 G/E 40 rs267599033 0.2649 None gnomAD-4.0.0 1.59299E-06
27989 27 R/K 41 rs1419715288 0.8964 None gnomAD-2.1.1 4.05E-06
27989 27 R/K 41 rs1419715288 0.8964 None gnomAD-3.1.2 6.57E-06
27989 27 R/K 41 rs1419715288 0.8964 None gnomAD-4.0.0 2.56458E-06
27990 28 P/S 42 None 0.5121 None gnomAD-4.0.0 1.20035E-06
27992 30 A/S 44 None 0.1315 None gnomAD-4.0.0 1.20033E-06
27993 31 T/A 45 rs752491962 0.5991 None gnomAD-2.1.1 7.18E-06
27993 31 T/A 45 rs752491962 0.5991 None gnomAD-4.0.0 4.77852E-06
27993 31 T/I 45 rs377614000 0.5991 None gnomAD-4.0.0 6.84518E-07
27993 31 T/N 45 rs377614000 0.5991 None gnomAD-2.1.1 2.16E-05
27993 31 T/N 45 rs377614000 0.5991 None gnomAD-3.1.2 5.26E-05
27993 31 T/N 45 rs377614000 0.5991 None gnomAD-4.0.0 4.40168E-05
27994 32 V/L 46 None 0.2432 None gnomAD-4.0.0 3.18557E-06
27994 32 V/M 46 rs572706568 0.2432 None gnomAD-3.1.2 6.57E-06
27994 32 V/M 46 rs572706568 0.2432 None 1000 genomes 1.99681E-04
27994 32 V/M 46 rs572706568 0.2432 None gnomAD-4.0.0 6.56711E-06
27995 33 N/T 47 rs751728774 0.4622 None gnomAD-2.1.1 8.1E-06
27995 33 N/T 47 rs751728774 0.4622 None gnomAD-3.1.2 6.57E-06
27995 33 N/T 47 rs751728774 0.4622 None gnomAD-4.0.0 4.95929E-06
27999 37 D/V 51 None 0.5667 None gnomAD-4.0.0 1.59269E-06
28000 38 G/C 52 rs1335831025 0.4197 None gnomAD-2.1.1 4.05E-06
28000 38 G/C 52 rs1335831025 0.4197 None gnomAD-3.1.2 6.57E-06
28000 38 G/C 52 rs1335831025 0.4197 None gnomAD-4.0.0 1.23993E-06
28000 38 G/D 52 rs374151070 0.4197 None gnomAD-2.1.1 4.05E-06
28000 38 G/D 52 rs374151070 0.4197 None gnomAD-4.0.0 4.8013E-06
28000 38 G/S 52 rs1335831025 0.4197 None gnomAD-2.1.1 1.22E-05
28000 38 G/S 52 rs1335831025 0.4197 None gnomAD-4.0.0 9.58319E-06
28000 38 G/V 52 rs374151070 0.4197 None gnomAD-2.1.1 4.05E-06
28000 38 G/V 52 rs374151070 0.4197 None gnomAD-3.1.2 6.57E-06
28000 38 G/V 52 rs374151070 0.4197 None gnomAD-4.0.0 6.5722E-06
28001 39 Q/K 55 None 0.7645 None gnomAD-4.0.0 1.59282E-06
28002 40 T/P 56 rs369737884 0.5558 None gnomAD-4.0.0 1.59276E-06
28002 40 T/S 56 None 0.5558 None gnomAD-4.0.0 1.59276E-06
28003 41 L/V 58 None 0.2141 None gnomAD-4.0.0 1.36896E-06
28004 42 K/R 59 rs776987640 0.9287 None gnomAD-2.1.1 4.06E-06
28004 42 K/R 59 rs776987640 0.9287 None gnomAD-3.1.2 6.57E-06
28004 42 K/R 59 rs776987640 0.9287 None gnomAD-4.0.0 6.57056E-06
28005 43 E/G 70 None 0.4676 None gnomAD-4.0.0 1.20033E-06
28005 43 E/Q 70 rs1451115384 0.4676 None gnomAD-2.1.1 4.06E-06
28005 43 E/Q 70 rs1451115384 0.4676 None gnomAD-4.0.0 1.59284E-06
28007 45 T/I 109 None 1.0081 None gnomAD-4.0.0 3.18518E-06
28008 46 R/K 115 None 0.1983 None gnomAD-4.0.0 1.59261E-06
28009 47 V/A 121 rs1337839201 0.1659 None gnomAD-3.1.2 6.58E-06
28009 47 V/A 121 rs1337839201 0.1659 None gnomAD-4.0.0 1.85981E-06
28009 47 V/D 121 None 0.1659 None gnomAD-2.1.1 4.05E-06
28009 47 V/D 121 None 0.1659 None gnomAD-4.0.0 1.36892E-06
28009 47 V/F 121 rs770470074 0.1659 None gnomAD-2.1.1 4.06E-06
28009 47 V/F 121 rs770470074 0.1659 None gnomAD-4.0.0 6.84472E-07
28009 47 V/G 121 rs1337839201 0.1659 None gnomAD-3.1.2 6.58E-06
28009 47 V/G 121 rs1337839201 0.1659 None gnomAD-4.0.0 6.57626E-06
28009 47 V/I 121 None 0.1659 None gnomAD-4.0.0 6.84472E-07
28011 49 V/L 123 None 0.2203 None gnomAD-4.0.0 1.36889E-06
28012 50 S/F 125 None 0.5042 None gnomAD-4.0.0 6.84444E-07
28014 52 S/A 130 None 0.3144 None gnomAD-4.0.0 1.59255E-06
28015 53 K/N 131 rs1457024696 0.7432 None gnomAD-2.1.1 4.06E-06
28015 53 K/N 131 rs1457024696 0.7432 None gnomAD-4.0.0 1.59264E-06
28016 54 T/I 134 rs748757133 0.5398 None gnomAD-2.1.1 1.44E-05
28016 54 T/I 134 rs748757133 0.5398 None gnomAD-3.1.2 1.31E-05
28016 54 T/I 134 rs748757133 0.5398 None gnomAD-4.0.0 3.09951E-06
28016 54 T/N 134 None 0.5398 None gnomAD-4.0.0 6.84457E-07
28017 55 V/I 135 rs777711368 0.2502 None gnomAD-2.1.1 4.06E-06
28017 55 V/I 135 rs777711368 0.2502 None gnomAD-4.0.0 3.18518E-06
28018 56 T/A 136 None 0.0843 None gnomAD-4.0.0 1.20032E-06
28019 57 S/L 137 rs769665204 0.1430 None gnomAD-2.1.1 4.05E-06
28021 59 S/C 139 None 0.1656 None gnomAD-4.0.0 1.59246E-06
28021 59 S/P 139 None 0.1656 None gnomAD-4.0.0 1.20034E-06
28023 61 K/R 141 None 0.5261 None gnomAD-4.0.0 1.20033E-06
28024 62 E/D 143 rs377540780 0.6716 None gnomAD-2.1.1 4.05E-06
28024 62 E/D 143 rs377540780 0.6716 None gnomAD-3.1.2 4.6E-05
28024 62 E/D 143 rs377540780 0.6716 None gnomAD-4.0.0 2.35544E-05
28024 62 E/G 143 None 0.6716 None gnomAD-4.0.0 1.20032E-06
28025 63 A/T 144 rs372956981 0.0981 None gnomAD-2.1.1 1.62E-05
28025 63 A/T 144 rs372956981 0.0981 None gnomAD-3.1.2 1.97E-05
28025 63 A/T 144 rs372956981 0.0981 None gnomAD-4.0.0 9.29798E-06
28025 63 A/V 144 None 0.0981 None gnomAD-4.0.0 1.59237E-06
28027 65 K/E 146 rs1647599149 0.4150 None gnomAD-4.0.0 3.60101E-06
28027 65 K/N 146 None 0.4150 None gnomAD-4.0.0 1.20033E-06
28028 66 E/G 148 None 0.5466 None gnomAD-4.0.0 5.47518E-06
28029 67 D/E 149 rs750468978 0.1485 None gnomAD-2.1.1 8.09E-06
28029 67 D/E 149 rs750468978 0.1485 None gnomAD-3.1.2 6.57E-06
28029 67 D/E 149 rs750468978 0.1485 None gnomAD-4.0.0 3.84511E-06
28029 67 D/G 149 rs758569836 0.1485 None gnomAD-2.1.1 4.05E-06
28029 67 D/G 149 rs758569836 0.1485 None gnomAD-4.0.0 1.59229E-06
28031 69 G/E 152 rs1206516728 0.2087 None gnomAD-2.1.1 4.05E-06
28031 69 G/E 152 rs1206516728 0.2087 None gnomAD-4.0.0 1.59239E-06
28031 69 G/R 152 rs1469962986 0.2087 None gnomAD-4.0.0 2.40068E-06
28033 71 Y/C 154 rs765843742 0.1166 None gnomAD-2.1.1 4.04E-06
28033 71 Y/C 154 rs765843742 0.1166 None gnomAD-4.0.0 2.0532E-06
28033 71 Y/F 154 None 0.1166 None gnomAD-4.0.0 6.84399E-07
28033 71 Y/S 154 None 0.1166 None gnomAD-4.0.0 6.84399E-07
28034 72 E/K 155 rs1243085385 0.3808 None gnomAD-4.0.0 6.84403E-07
28034 72 E/V 155 None 0.3808 None gnomAD-4.0.0 1.20033E-06
28035 73 L/F 156 rs878854394 0.0846 None gnomAD-2.1.1 3.19E-05
28035 73 L/F 156 rs878854394 0.0846 None gnomAD-3.1.2 6.57E-06
28035 73 L/F 156 rs878854394 0.0846 None gnomAD-4.0.0 4.95861E-06
28037 75 V/L 158 rs754285119 0.0944 None gnomAD-2.1.1 1.21E-05
28037 75 V/L 158 rs754285119 0.0944 None gnomAD-4.0.0 2.3269E-05
28038 76 S/L 159 None 0.2701 None gnomAD-4.0.0 6.84367E-07
28041 79 A/V 163 rs900858263 0.6273 None gnomAD-2.1.1 3.19E-05
28041 79 A/V 163 rs900858263 0.6273 None gnomAD-3.1.2 1.31E-05
28041 79 A/V 163 rs900858263 0.6273 None gnomAD-4.0.0 8.05773E-06
28042 80 G/R 164 None 0.2872 None gnomAD-4.0.0 1.5921E-06
28043 81 S/Y 165 rs764567496 0.5185 None gnomAD-2.1.1 4.04E-06
28044 82 I/L 166 rs369062122 0.3022 None gnomAD-2.1.1 3.18E-05
28044 82 I/L 166 rs369062122 0.3022 None gnomAD-3.1.2 3.29E-05
28044 82 I/L 166 rs369062122 0.3022 None 1000 genomes 1.99681E-04
28044 82 I/L 166 rs369062122 0.3022 None gnomAD-4.0.0 6.81736E-06
28044 82 I/M 166 None 0.3022 None gnomAD-4.0.0 1.59208E-06
28044 82 I/T 166 rs1004500080 0.3022 None gnomAD-2.1.1 7.16E-06
28044 82 I/T 166 rs1004500080 0.3022 None gnomAD-3.1.2 2.63E-05
28044 82 I/T 166 rs1004500080 0.3022 None gnomAD-4.0.0 5.57836E-06
28044 82 I/V 166 rs369062122 0.3022 None gnomAD-2.1.1 2.51E-05
28044 82 I/V 166 rs369062122 0.3022 None gnomAD-3.1.2 3.94E-05
28044 82 I/V 166 rs369062122 0.3022 None gnomAD-4.0.0 8.05747E-06
28045 83 T/I 168 None 0.4228 None gnomAD-4.0.0 6.84367E-07
28045 83 T/R 168 rs774026360 0.4228 None gnomAD-2.1.1 4.04E-06
28045 83 T/R 168 rs774026360 0.4228 None gnomAD-4.0.0 6.84367E-07
28046 84 V/F 169 None 0.1869 None gnomAD-4.0.0 5.47506E-06
28047 85 P/S 171 rs1390232115 0.4897 None gnomAD-2.1.1 4.04E-06
28047 85 P/S 171 rs1390232115 0.4897 None gnomAD-4.0.0 1.59227E-06
28048 86 I/T 172 rs770523023 0.0912 None gnomAD-2.1.1 4.04E-06
28048 86 I/T 172 rs770523023 0.0912 None gnomAD-3.1.2 1.31E-05
28048 86 I/T 172 rs770523023 0.0912 None gnomAD-4.0.0 3.04483E-06
28049 87 T/A 173 None 0.3193 None gnomAD-4.0.0 1.59233E-06
28049 87 T/I 173 rs762467183 0.3193 None gnomAD-4.0.0 1.59233E-06
28049 87 T/S 173 None 0.3193 None gnomAD-4.0.0 3.18465E-06
28050 88 I/T 174 None 0.1120 None gnomAD-4.0.0 1.59239E-06
28050 88 I/V 174 rs201348580 0.1120 None gnomAD-2.1.1 2.90083E-04
28050 88 I/V 174 rs201348580 0.1120 None gnomAD-3.1.2 4.20566E-04
28050 88 I/V 174 rs201348580 0.1120 None 1000 genomes 1.99681E-04
28050 88 I/V 174 rs201348580 0.1120 None gnomAD-4.0.0 7.0472E-04
28051 89 I/T 175 rs748178006 0.2865 None gnomAD-2.1.1 4.04E-06
28051 89 I/T 175 rs748178006 0.2865 None gnomAD-4.0.0 6.15983E-06